5-72444169-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152625.3(ZNF366):c.1822G>A(p.Gly608Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000254 in 1,613,438 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152625.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000240 AC: 6AN: 249624Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135332
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461250Hom.: 0 Cov.: 33 AF XY: 0.0000179 AC XY: 13AN XY: 726938
GnomAD4 genome AF: 0.000118 AC: 18AN: 152188Hom.: 0 Cov.: 33 AF XY: 0.000161 AC XY: 12AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1822G>A (p.G608R) alteration is located in exon 5 (coding exon 4) of the ZNF366 gene. This alteration results from a G to A substitution at nucleotide position 1822, causing the glycine (G) at amino acid position 608 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at